Human genes for glycogen storage disease V
Glycogen storage disease V [DOID:2746]
A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.
Synonyms: glycogen storage disease V, DOID:2746, glycogen storage disease Vs, glycogen storage disease type V, Glycogen storage disease, type V ...
Linkouts: OMIM